RT Journal Article
SR Electronic
T1 The genetic basis of idiopathic pulmonary fibrosis
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP 1717
OP 1727
DO 10.1183/09031936.00163814
VO 45
IS 6
A1 Jonathan A. Kropski
A1 Timothy S. Blackwell
A1 James E. Loyd
YR 2015
UL http://erj.ersjournals.com/content/45/6/1717.abstract
AB Throughout the past decade, there have been substantial advances in understanding the pathogenesis of idiopathic pulmonary fibrosis (IPF). Recently, several large genome-wide association and linkage studies have identified common genetic variants in more than a dozen loci that appear to contribute to IPF risk. In addition, family-based studies have led to the identification of rare genetic variants in genes related to surfactant function and telomere biology, and mechanistic studies suggest pathophysiological derangements associated with these rare genetic variants are also found in sporadic cases of IPF. Current evidence suggests that rather than existing as distinct syndromes, sporadic and familial cases of IPF (familial interstitial pneumonia) probably reflect a continuum of genetic risk. Rapidly evolving bioinformatic and molecular biology techniques, combined with next-generation sequencing technologies, hold great promise for developing a comprehensive, integrated approach to defining the fundamental molecular mechanisms that underlie IPF pathogenesis. Emerging genetic studies offer new insights into the fundamental mechanisms of pulmonary fibrosis http://ow.ly/KK9Q3